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Nonsynonymous polymorphisms of the PDLIM5 gene association with the occurrence of both bipolar disorder and schizophrenia

Zain MA, Roffeei SN, Zainal NZ, Kanagasundram S, Mohamed Z

Psychiatr Genet, 2013 Dec;23(6):258-61.
PMID: 24064681 DOI: 10.1097/YPG.0000000000000015

Two single nucleotide polymorphisms of PDLIM5, rs7690296 and rs11097431, were genotyped using Mass-Array SNP genotyping by Sequenom technology in 244 bipolar disorder patients, 471 schizophrenia patients, and 601 control individuals who were Malay, Chinese, and Indian ethnic groups in the Malaysian population. A significant association was observed in allele frequency between the rs7690296 polymorphism and bipolar disorder in the Indian ethnic group [P=0.02, adjusted odds ratio (OR) 0.058, 95% confidence interval (CI) 0.36-0.93]. A significant association was also observed between the rs7690296 polymorphism and schizophrenia under the recessive model for both Malay (P=0.02, adjusted OR 1.86, 95% CI 1.12-3.10) and Indian (P=0.02, adjusted OR 1.92, 95% CI 1.10-3.37) ethnic groups. However, no association was detected between the rs11097431 polymorphism either with bipolar disorder or with schizophrenia. Therefore, it can be deduced that the nonsynonymous rs7690296 polymorphism could play an important role in the pathophysiology of both bipolar disorder and schizophrenia.
Influence of DRD2 polymorphisms on the clinical outcomes of patients with schizophrenia

Zahari Z, Teh LK, Ismail R, Razali SM

Psychiatr Genet, 2011 Aug;21(4):183-9.
PMID: 21206399 DOI: 10.1097/YPG.0b013e3283437250

Variations in the gene for dopamine D2 receptor (DRD2) might have an influence on the outcome of antipsychotic treatment in schizophrenia. The objective of this study was to investigate the influence of DRD2 polymorphisms on treatment outcomes in patients with schizophrenia.
Association of functional polymorphisms in 3'-untranslated regions of COMT, DISC1, and DTNBP1 with schizophrenia: a meta-analysis

Mohamed ZI, Tee SF, Tang PY

Psychiatr Genet, 2018 12;28(6):110-119.
PMID: 30252773 DOI: 10.1097/YPG.0000000000000210

INTRODUCTION: In recent years, various studies have accumulated evidence of the involvement of single nucleotide polymorphisms (SNPs) in introns and exons in schizophrenia. The association of functional SNPs in the 3'-untranslated regions with schizophrenia has been explored in a number of studies, but the results are inconclusive because of limited meta-analyses. To systematically analyze the association between SNPs in 3'-untranslated regions and schizophrenia, we conducted a meta-analysis by combining all available studies on schizophrenia candidate genes.
MATERIALS AND METHODS: We searched candidate genes from the schizophrenia database and performed a comprehensive meta-analysis using all the available data up to August 2017. The association between susceptible SNPs and schizophrenia was assessed by the pooled odds ratio with 95% confidence interval using fixed-effect and random-effect models.
RESULTS: A total of 21 studies including 8291 cases and 9638 controls were used for meta-analysis. Three investigated SNPs were rs165599, rs3737597, and rs1047631 of COMT, DISC1, and DTNBP1, respectively. Our results suggested that rs3737597 showed a significant association with schizophrenia in Europeans (odds ratio: 1.584, P: 0.002, 95% confidence interval: 1.176-2.134) under a random-effect framework.
CONCLUSION: This meta-analysis indicated that rs3737597 of DISC1 was significantly associated with schizophrenia in Europeans, and it can be suggested as an ethnic-specific risk genetic factor.
Gene and schizophrenia in the pregenome and postgenome-wide association studies era: a bibliometric analysis and network visualization

Zakaria WNA, Sasongko TH, Al-Rahbi B, Al-Sowayan N, Ahmad AH, Zakaria R, et al.

Psychiatr Genet, 2023 Apr 01;33(2):37-49.
PMID: 36825838 DOI: 10.1097/YPG.0000000000000336

This study aimed to perform a bibliometric analysis on genetic studies in schizophrenia in the pregenome-wide association studies (GWAS) and post-GWAS era. We searched the literature on genes and schizophrenia using the Scopus database. The documents increased with time, especially after the human genome project and International HapMap Project, with the highest citation in 2008. The top occurrence author keywords were discovered to be different in the pre-GWAS and post-GWAS eras, reflecting the progress of genetic studies connected to schizophrenia. Emerging keywords highlighted a trend towards an application of precision medicine, showing an interplay of environmental exposures as well as genetic factors in schizophrenia pathogenesis, progression, and response to therapy. In conclusion, the gene and schizophrenia literature has grown rapidly after the human genome project, and the temporal variation in the author keywords pattern reflects the trend of genetic studies related to schizophrenia in the pre-GWAS and post-GWAS era.
Emerging trends in gene and bipolar disorder research: a bibliometric analysis and network visualisation

Zakaria WNA, Wijaya A, Al-Rahbi B, Ahmad AH, Zakaria R, Othman Z

Psychiatr Genet, 2023 Jun 01;33(3):102-112.
PMID: 36825833 DOI: 10.1097/YPG.0000000000000338

This study aims to use a bibliometric technique to evaluate the scientific output of gene and bipolar disorder research. The search query related to gene and bipolar disorder from the Scopus database identified 1848 documents from 1951 to 2020. The growth in the publications increased since early 1990, peaked in 2011, and started to decline thereafter. High occurrence in author keywords suggests that some research topics, such as "polymorphism", "linkage" and "association study" have waned over time, whereas others, such as "DNA methylation," "circadian rhythm," "" and "meta-analysis," are now the emerging trends in gene and bipolar disorder research. The USA was the country with the highest production followed by the UK, Canada, Italy and Germany. The leading institutions were Cardiff University in the UK, the National Institute of Mental Health (NIMH) in the USA, King's College London in the UK and the University of California, San Diego in the USA. The leading journals publishing gene and bipolar literature were the American Journal of Medical Genetics Neuropsychiatric Genetics, Molecular Psychiatry and Psychiatric Genetics. The top authors in the number of publications were Craddock N, Serretti A and Rietschel M. According to the co-authorship network analysis of authors, the majority of the authors in the same clusters were closely linked together and originated from the same or neighbouring country. The findings of this study may be useful in identifying emerging topics for future research and promoting research collaboration in the field of genetic studies related to bipolar disorder.
Understanding the role of gut microbiota in the pathogenesis of schizophrenia

Ghorbani M, Rajandas H, Parimannan S, Stephen Joseph GB, Tew MM, Ramly SS, et al.

Psychiatr Genet, 2021 Apr 01;31(2):39-49.
PMID: 33252574 DOI: 10.1097/YPG.0000000000000270

Schizophrenia is a chronic mental disorder with marked symptoms of hallucination, delusion, and impaired cognitive behaviors. Although multidimensional factors have been associated with the development of schizophrenia, the principal cause of the disorder remains debatable. Microbiome involvement in the etiology of schizophrenia has been widely researched due to the advancement in sequencing technologies. This review describes the contribution of the gut microbiome in the development of schizophrenia that is facilitated by the gut-brain axis. The gut microbiota is connected to the gut-brain axis via several pathways and mechanisms, that are discussed in this review. The role of the oral microbiota, probiotics and prebiotics in shaping the gut microbiota are also highlighted. Lastly, future perspectives for microbiome research in schizophrenia are addressed.
Psychosis symptoms associated with Niemann-Pick disease type C

Ong LT

Psychiatr Genet, 2021 Aug 01;31(4):107-118.
PMID: 34133410 DOI: 10.1097/YPG.0000000000000286

Niemann-Pick disease type C (NP-C) is a severe neurovisceral lipid storage disease that results in the accumulation of unesterified cholesterol in lysosomes or endosomes. The clinical presentations of NP-C are variable which include visceral symptoms, neurologic symptoms and psychiatric symptoms. Psychosis is the most common psychiatric manifestation of NP-C and is indistinguishable from a typical psychosis presentation of schizophrenia. The common psychotic presentations in NP-C include visual hallucinations, delusions, auditory hallucinations and thought disorders. Psychosis symptoms are more common in adult or adolescent-onset forms compared with pediatric-onset forms. The underlying pathophysiology of psychosis in NP-C is most probably due to dysconnectivity particularly between frontotemporal connectivity and subcortical structures. NP-C sometimes is mistaken for schizophrenia which causes delay in treatment due to lack of awareness and literature review. This review aims to summarize the relevant case reports on psychosis symptoms in NP-C and discuss the genetics and pathophysiology underlying the condition.